Immunodefeciency disorders DR.FATMA ZAHRANI

Immunodef. (con,d)  Objectives: By the end of this lecture you should : By the end of this lecture you should : 1.know the anatomy& physiology of immune system. 1.know the anatomy& physiology of immune system. 2.know when to suspect immunodef. 2.know when to suspect immunodef. 3.know the classification of immunodef. 3.know the classification of immunodef. 4.give example of each type. 4.give example of each type. 5 know the lab.tests to diagnose. 5 know the lab.tests to diagnose. 6.outline the treatment of different types. 6.outline the treatment of different types.

Immunodef.  Organs of immune system: primary Bone marrow primary Bone marrow Thymus Thymus Secondery Lymphoid tissues Secondery Lymphoid tissues Spleen Spleen

Immunodef.  Cells of immune system: 1. - B&T cells.(bone marrow&thymus) 1. - B&T cells.(bone marrow&thymus) - Natural killer cells - Natural killer cells 2.Mononuclear phagocyte (RES). 2.Mononuclear phagocyte (RES). 3.Denteritic cells ( Langerhans cell ). 3.Denteritic cells ( Langerhans cell ). 4.Graulocytes (nutrophils,esinophil – etc) 4.Graulocytes (nutrophils,esinophil – etc)

Immunodef.  Immune response: Bacteria----complement+phagocyte ↓ denderitic denderitic lymph node T cell area lymph node T cell area killed,diff. killed,diff. B cell area B cell area plasma,memory plasma,memory

Immunodef.  When to suspect immunodef. Recurrent infection. Recurrent infection. Delayed response to anti microbial. Delayed response to anti microbial. Opportunestic infection. Opportunestic infection. Failure to thrive. Failure to thrive. Dysmorphic features. Dysmorphic features. +ve family history. +ve family history.

Immunodef.  Classification : Primary: Primary: 1.B cell defect : age 6months+ 1.B cell defect : age 6months+ encapsulated bacteria. encapsulated bacteria. sinopulmonary disease. sinopulmonary disease. eg: X-linked agammaglobulinemia. eg: X-linked agammaglobulinemia. selective IgA def selective IgA def

Immunodef. Primary: Primary: 2. T-cell defect: from early life. 2. T-cell defect: from early life. opportunestic bacteria. opportunestic bacteria. Mycobacteria. Mycobacteria. viruses. viruses. chronic diarrhea. chronic diarrhea. malabsorption malabsorption dysmorphism dysmorphism

Immunodef. T cell def. T cell def. Digeorge syndrome Digeorge syndrome Thymus aplasia. Thymus aplasia. parathyroid aplasia parathyroid aplasia vertebral anomalies. vertebral anomalies. cardiac anomalies. cardiac anomalies. dysmorphism dysmorphism

Immunodef. 3.SCID. 3.SCID.4.Phagocytic killing( CGD). killing( CGD). chemotaxis. chemotaxis.5.complement.

Immunodef. Secondry : Secondry : HIV. HIV. Malignency. Malignency. medication. medication.

Immunodef. Diagnosis: Diagnosis: B.cell defect: B.cell defect: Total IgG &subclasses. Total IgG &subclasses. specific ab. specific ab. T cell defect: T cell defect: wbc. wbc. T cell subset. T cell subset. skin test skin test

Immunodef. Diagnosis: Diagnosis: Nbt. Nbt. Phage test. Phage test. CH50 CH50 Complement. Complement.

Immunodef. Treatment: Treatment: - Aggressive parenteral anti microbial. - Nutretional support. - IVIG. - G-CSF. - BMT. - Antiviral.

Immunodef.  Classification: Primary Primary Antibodies def. Antibodies def. Cell mediated def. Cell mediated def. Combined def. Combined def. Phagocytic dysfunction. Phagocytic dysfunction. Complement def. Complement def. Secondery Secondery.Infection.Infection Malignency Malignency Medication Medication

Immunodef.  Primary antibodies def.  S&S: age :after 6 months of age. age :after 6 months of age. +ve family history. +ve family history. male (Bruton,s disease) male (Bruton,s disease) sinopulmonary disease. sinopulmonary disease. more frequent more frequent prolonged even with treatement prolonged even with treatement hepatosplenomegaly hepatosplenomegaly +&- lymphadenopathy. +&- lymphadenopathy.

Immunodef.  Bruton disease:

Immunodef.  Transient infantile hypogammaglobulinemia:

Immunodef.  Dignosis: 1. Total immunoglobulins — less than o.5g/dl 1. Total immunoglobulins — less than o.5g/dl IgG (total &subclasses) IgG (total &subclasses) IgM,IgA &? IgE. IgM,IgA &? IgE. 2.B-cell markers (CD 2.B-cell markers (CD 3.Isoheamagglutenins. 3.Isoheamagglutenins

Immunodef.  Treatement: Regular IVIG. Q4weeks. Regular IVIG. Q4weeks. Aggressive parenteral antimicrobial. Aggressive parenteral antimicrobial. Nutritional supports. Nutritional supports. BMT BMT

Immunodef.  Cell mediated immunodef. S&S: S&S: age from neonatal period.candidasis age from neonatal period.candidasis no sex prediliction. no sex prediliction. ? Family history (Mucocutaneous candidiasis ? Family history (Mucocutaneous candidiasis early deathes. early deathes. ?dysmorphism (DiGeorge) ?dysmorphism (DiGeorge) allopecia,nail dystrophy,FTT allopecia,nail dystrophy,FTT no BCG scar no BCG scar

Immunodef.  Digeorge syndrome : Sporadic,3 rd &4 th arches disease. Sporadic,3 rd &4 th arches disease. Dysmorphic Dysmorphic cardiac,vertebral anomalies cardiac,vertebral anomalies sever hypocalcemia(parathyroid aplasia) sever hypocalcemia(parathyroid aplasia) convulsion convulsion thmic aplasia thmic aplasia

Immunodef.  Dignosis;  cbc lymphopenia.  no reaction to intradermal test.  CD markers  CXR 

Immunodef.  Treatement:  aggressive antimicrobial therapy.  thymus transplantaion  prognosis poor

Immunodef.  Sever combind immundef.:

Immunodef. Phagocytic def.  S&S: age any age. age any age. +ve family history (CGD) +ve family history (CGD) recurrent suppurativ infection recurrent suppurativ infection (skin,bone,sinopulmonary). (skin,bone,sinopulmonary). lymphadenopathy. lymphadenopathy. hepatosplenomegaly. hepatosplenomegaly.

Immunodef.  Diagnosis:  cbc wbc(high OR low)  NBT  phagotest  other

Immunodef.  Treatment:  agrressive antimicrobial.  WBC transfusion  colony stimulation factors.  BMT

Immunodef.  Complement def.  S&S: rare rare recurrent neisseria infection recurrent neisseria infection  Dignosis: CH50 CH50 complement assay. complement assay.